Nephrolithiasis is a condition in which urinary supersaturation leads to stone formation in the urinary system. It is a major health problem and its prevalence has significantly increased among children over the last decades. It is a multifactorial disease involving environmental, physiological, and genetic factors. Nephrolithiasis is genetically heterogenous, and mutations in at least 30 genes have been linked to this disorder. Recently, it has been reported that mutations in SLC26A1 cause a recessive form of calcium oxalate urolithiasis.
Gee HY, Jun I, Braun DA, Lawson JA, Halbritter J, Shril S, Nelson CP, Tan W, Stein D, Wassner AJ, Ferguson MA, Gucev Z, Sayer JA, Milosevic D, Baum M, Tasic V, Lee MG, Hildebrandt F
Majmundar AJ, Widmeier E, Heneghan JF, Daga A, Wu CW, Buerger F, Hugo H, Ullah I, Amar A, Ottlewski I, Braun DA, Jobst-Schwan T, Lawson JA, Zahoor MY, Rodig NM, Tasic V, Nelson CP, Khaliq S, Schonauer R, Halbritter J, Sayer JA, Fathy HM, Baum MA, Shril S, Mane S, Alper SL, Hildebrandt F
タイトル
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis.
